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Human Molecular Genetics, 2000, Vol. 9, No. 17 2471-2478
© 2000 Oxford University Press

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

Mei Sun1, Ehud Goldin1,+, Stefanie Stahl1, John L. Falardeau3,4, John C. Kennedy3,4, James S. Acierno Jr3,4, Catherine Bove4, Christine R. Kaneski1, James Nagle2, Matthew C. Bromley3,4, Matthew Colman3,4, Raphael Schiffmann1 and Susan A. Slaugenhaupt3,4

1Developmental and Metabolic Neurology Branch, 2DNA Sequencing Facility, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA, 3Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA 02115, USA and 4Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA

Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2–13.3 by genetic linkage. Here we report the cloning of a novel transient receptor potential cation channel gene and show that this gene is mutated in patients with the disorder. ML4 encodes a protein, which we propose to call mucolipin, which has six predicted transmembrane domains and is a member of the polycystin II subfamily of the Drosophila transient receptor potential gene family. The role of a potential receptor-stimulated cation channel defect in the pathogenesis of mucolipidosis IV is discussed.

+ To whom correspondence should be addressed. Tel: +1 301 594 3133; Fax: +1 301 496 9480; Email: goldin@codon.nih.gov


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